NM_004415.4(DSP):c.5688_5690del (p.Arg1896del) AND multiple conditions

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 8, 2019
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV001208089.8

Allele description [Variation Report for NM_004415.4(DSP):c.5688_5690del (p.Arg1896del)]

NM_004415.4(DSP):c.5688_5690del (p.Arg1896del)

Gene:

DSP:desmoplakin [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

6p24.3

Genomic location:

Preferred name:

NM_004415.4(DSP):c.5688_5690del (p.Arg1896del)

HGVS:

NC_000006.12:g.7582950_7582952del
NG_008803.1:g.46314_46316del
NM_001008844.3:c.3891_3893del
NM_001319034.2:c.4359_4361del
NM_004415.4:c.5688_5690delMANE SELECT
NP_001008844.1:p.Arg1297del
NP_001305963.1:p.Arg1453del
NP_004406.2:p.Arg1896del
LRG_423t1:c.5688_5690del
LRG_423:g.46314_46316del
NC_000006.11:g.7583181_7583183del
NC_000006.11:g.7583183_7583185del
NM_004415.2:c.5688_5690del

Protein change:

R1297del

Links:

dbSNP: rs1561701244

NCBI 1000 Genomes Browser:

rs1561701244

Molecular consequence:

NM_001008844.3:c.3891_3893del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_001319034.2:c.4359_4361del - inframe_deletion - [Sequence Ontology: SO:0001822]
NM_004415.4:c.5688_5690del - inframe_deletion - [Sequence Ontology: SO:0001822]

Condition(s)

Name:: Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
Synonyms:: Palmoplantar keratoderma with left ventricular cardiomyopathy and woolly hair; Epidermolytic palmoplantar keratoderma woolly hair and dilated cardiomyopathy; Dilated cardiomyopathy with woolly hair and keratoderma; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0011581; MedGen: C1854063; Orphanet: 65282; OMIM: 605676

Name:: Arrhythmogenic right ventricular dysplasia 8 (ARVD8)
Synonyms:: ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA, FAMILIAL, 8; Arrhythmogenic right ventricular cardiomyopathy, type 8; Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy 8
Identifiers:: MONDO: MONDO:0011831; MedGen: C1843896; OMIM: 607450

Recent activity

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beta-galactosidase [Lactiplantibacillus plantarum]
beta-galactosidase [Lactiplantibacillus plantarum]
gi|1003321592|gnl|PRJNA284878|ABT40 5|gb|AMO30823.1|

Protein
Bennelongia cytochrome oxidase subunit I (COI) gene, partial cds; mitochondrial.
Bennelongia cytochrome oxidase subunit I (COI) gene, partial cds; mitochondrial.
PopSet: 482879116

PopSet
Cyprididae cytochrome oxidase subunit I (COI) gene, partial cds; mitochondrial.
Cyprididae cytochrome oxidase subunit I (COI) gene, partial cds; mitochondrial.
PopSet: 375005773

PopSet
Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-l...
Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome

MedGen

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001379461	Labcorp Genetics (formerly Invitae), Labcorp	criteria provided, single submitter (Invitae Variant Classification Sherloc (09022015))	Uncertain significance (Jul 8, 2019)	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001379461

Labcorp Genetics (formerly Invitae), Labcorp

criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))

Uncertain significance
(Jul 8, 2019)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]

PMID:: 28492532
PMCID:: PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV001379461.5

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Experimental studies and prediction algorithms are not available or were not evaluated for this variant, and the functional significance of the affected amino acid(s) is currently unknown. This variant has not been reported in the literature in individuals with DSP-related conditions. This variant is not present in population databases (ExAC no frequency). This variant, c.5688_5690del, results in the deletion of 1 amino acid(s) of the DSP protein (p.Arg1896del), but otherwise preserves the integrity of the reading frame.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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